Saraiva and Baraitser proposed criteria for the Joubert Syndrome. The authors are from Paediatric Hospital in Coimbra, Portugal, and the Institute of Child Health in London.
Criteria - 4 or 5 of the following criteria:
(1) vermis hypoplasia
(3) developmental delay
(4) abnormal breathing
(5) abnormal eye movements
Patients who meet the criteria of Joubert syndrome are further classified depending on the presence or absence of retinal dysplasia:
(1) The patient is classified as having Dekaban syndrome if the patient has retinal dysplasia. Tehse patients also have renal cysts.
(2) The second group does not have retinal dysplasia.
To read more or access our algorithms and calculators, please log in or register.